ClinVar Miner

Submissions for variant NM_000038.6(APC):c.2711_2712del (p.Arg904fs) (rs1554084403)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color RCV000582895 SCV000686907 pathogenic Hereditary cancer-predisposing syndrome 2017-01-03 criteria provided, single submitter clinical testing
Invitae RCV000646442 SCV000768214 pathogenic Familial adenomatous polyposis 1 2018-03-19 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the APC gene (p.Arg904Lysfs*7). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 1,940 amino acids (68%) of the APC protein. This variant is not present in population databases (ExAC no frequency). This variant has been reported in an individual affected with adenomatous polyposis coli (PMID: 16134147). Multiple truncating variants downstream of this truncation have been reported as pathogenic in individuals with familial adenomatous polyposis (PMID: 17064931, 1316610). This suggests that deletion of this region of the APC protein is causative of disease. For these reasons, this variant has been classified as Pathogenic.

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